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Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene.

作者信息

Yu Xuelin, Zhao Yueyue, Yang Zhenghua, Chen Xing, Kang Gangjing

机构信息

Department of Ophthalmology, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, China.

出版信息

Gene. 2024 May 15;906:148223. doi: 10.1016/j.gene.2024.148223. Epub 2024 Jan 28.

DOI:10.1016/j.gene.2024.148223
PMID:38286268
Abstract
摘要

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Genetic research on Nance-Horan syndrome caused by a novel mutation in the NHS gene.由NHS基因新突变引起的南斯-霍兰综合征的遗传学研究。
Gene. 2024 May 15;906:148223. doi: 10.1016/j.gene.2024.148223. Epub 2024 Jan 28.
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Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.瑞士队列中先天性白内障的遗传图谱:解决南斯-霍兰综合征的诊断疏漏
Biomedicines. 2025 Aug 2;13(8):1883. doi: 10.3390/biomedicines13081883.
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Short communication: exploring genetic associations with cryptorchidism in Wagyu cattle.简短通讯:探索和牛隐睾症的遗传关联
J Anim Sci. 2025 Jan 4;103. doi: 10.1093/jas/skaf073.
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Genotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
一种新型变异的男性和女性携带者中Nance-Horan综合征的基因型-表型相关性
Genes (Basel). 2025 Jan 16;16(1):91. doi: 10.3390/genes16010091.